Disorders


 

DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness


Synonym(s): DFN2 Nonsyndromic Hearing Loss and Deafness

 

GeneReviewOMIM

GeneLocusProtein
PRPS1Xq22.3Ribose-phosphate pyrophosphokinase 1

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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